Results 1 to 10 of about 67,076 (344)

Impact of glycogen storage disease type I on adult daily life: a survey [PDF]

Orphanet Journal of Rare Diseases, 2021
Background Glycogen storage disease type I (GSD I) is a rare autosomal recessive disorder of carbohydate metabolism characterized by recurrent hypoglycaemia and hepatomegaly. Management of GSD I is demanding and comprises a diet with defined carbohydrate
Sven F. Garbade, Viviane Ederer, Peter Burgard, Udo Wendel, Ute Spiekerkoetter, Dorothea Haas, Sarah C. Grünert   +6 more
doaj   +5 more sources

Imbalanced cortisol concentrations in glycogen storage disease type I: evidence for a possible link between endocrine regulation and metabolic derangement [PDF]

Orphanet Journal of Rare Diseases, 2020
Background Glycogen storage disease type I (GSDI) is an inborn error of carbohydrate metabolism caused by mutations of either the G6PC gene (GSDIa) or the SLC37A4 gene (GSDIb).
Alessandro Rossi, Chiara Simeoli, Mariacarolina Salerno, Rosario Ferrigno, Roberto Della Casa, Annamaria Colao, Pietro Strisciuglio, Giancarlo Parenti, Rosario Pivonello, Daniela Melis   +9 more
doaj   +5 more sources

Von Gierke Disease (Glycogen Storage Disease Type I) and Life-Threatening Abdominal Aortic Aneurysm: A Case Report of an Extremely Rare Condition [PDF]

Vascular Specialist International, 2023
Von Gierke disease, also known as glycogen storage disease type I, co-existent with an abdominal aortic aneurysm (AAA), is an extremely rare combination of diseases that requires challenging therapeutic measures.
Apostolos G. Pitoulias, Nizar Abu Bakr, Majid Kazemtash, Firouza Dahi, Michael Schütz, Konstantinos P. Donas   +5 more
doaj   +5 more sources

"Bull's eye" appearance of hepatocellular adenomas in patients with glycogen storage disease type I - atypical magnetic resonance imaging findings: Two case reports. [PDF]

World J Clin Cases, 2021
BACKGROUND Hepatocellular adenomas are rare tumors that can occur in patients with glycogen storage disease type I. CASE SUMMARY We herein report two cases of histologically proven hepatocellular adenomas in patients with glycogen storage disease type I.
Vernuccio F, Austin S, Meyer M, Guy CD, Kishnani PS, Marin D.   +5 more
europepmc   +4 more sources

Glycogen storage disease type I: Genetic etiology, clinical manifestations, and conventional and gene therapies [PDF]

Pediatric Discovery, 2023
Glycogen storage disease type I (GSDI) is an inherited metabolic disorder characterized by a deficiency of enzymes or proteins involved in glycogenolysis and gluconeogenesis, resulting in excessive intracellular glycogen accumulation.
Jiamin Zhong, Yannian Gou, Piao Zhao, Xiangyu Dong, Meichun Guo, Aohua Li, Ailing Hao, Hue H. Luu, Tong‐Chuan He, Russell R. Reid, Jiaming Fan   +10 more
doaj   +3 more sources

Fluorodeoxyglucose-positron emission tomography as a potential alternative tool for functional diagnosis of glycogen storage disease type I [PDF]

Radiology Case Reports, 2023
A 43-year-old woman with genetically confirmed glycogen storage disease type Ib was suspected to have left breast cancer. Fluorodeoxyglucose-positron emission tomography showed high fluorodeoxyglucose accumulation in the whole liver as well as left ...
Takeshi Sato, MD, Mikako Inokuchi, MD, PhD, Satsuki Nakano, MD, Yu Iwabuchi, MD, PhD, Tetsu Hayashida, MD, PhD, Tomohiro Ishii, MD, PhD, Tomonobu Hasegawa, MD, PhD   +6 more
doaj   +3 more sources

Safety and Efficacy of DTX401, an AAV8-Mediated Liver-Directed Gene Therapy, in Adults With Glycogen Storage Disease Type I a (GSDIa). [PDF]

J Inherit Metab Dis
Glycogen storage disease type Ia (GSDIa) is a rare, life‐threatening, inherited carbohydrate metabolism disorder caused by glucose‐6‐phosphatase (G6Pase) deficiency, which is essential for glycogenolysis and gluconeogenesis.
Weinstein DA, Derks TG, Rodriguez-Buritica DF, Ahmad A, Couce ML, Mitchell JJ, Riba-Wolman R, Mount M, Sallago JB, Ross KM, van der Klauw MM, de Boer F, van der Schaaf C, Saavedra H, Martínez-Olmos M, Atanga E, Hosseini A, Mitragotri D, Crombez E.   +18 more
europepmc   +3 more sources

Cellular and metabolic effects of renin-angiotensin system blockade on glycogen storage disease type I nephropathy. [PDF]

Hum Mol Genet, 2022
Glycogen Storage Disease Type I (GSDI) is an inherited disease caused by glucose-6 phosphatase (G6Pase) deficiency, leading to a loss of endogenous glucose production and severe hypoglycemia. Moreover, most GSDI patients develop a chronic kidney disease (
Monteillet L, Labrune P, Hochuli M, Do Cao J, Tortereau A, Miliano AC, Ardon-Zitoun C, Duchampt A, Silva M, Verzieux V, Mithieux G, Rajas F.   +11 more
europepmc   +4 more sources

Kidney and Metabolic Phenotypes in Glycogen Storage Disease Type-I Patients [PDF]

Frontiers in Pediatrics, 2020
Patients and Methods: A retrospective chart review of 32 GSD- I patients, followed at the American University of Beirut Medical Center, between 2007 and 2018 was conducted. Diagnosis was confirmed by enzymatic and/or genetic studies.
Bilal Aoun, Sami Sanjad, Jad A. Degheili, Abir Barhoumi, Amina Bassyouni, Pascale E. Karam   +5 more
doaj   +3 more sources

Glycogen Storage Disease Type I and Bone: Clinical and Cellular Characterization. [PDF]

Calcif Tissue Int
Glycogen storage disease (GSD) is the most prevalent inherited disorder of glycogen metabolism for which no causal treatment is available. In recent years, thanks to the improved clinical management, the life expectancy of these patients extended ...
Vai S, Falchetti A, Corbetta S, Bianchi ML, Alberio C, Carrara S, Gasperini S, Pretese R, Parisi L, Teti A, Maurizi A.   +10 more
europepmc   +3 more sources